Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0000818 | HP:0000818 | Abnormality of the endocrine system | 0 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000818 | Abnormality of the endocrine system | 0 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0000818 | Abnormality of the endocrine system | 0 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0000818 | Abnormality of the endocrine system | 0 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0000818 | Abnormality of the endocrine system | 0 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0000818 | Abnormality of the endocrine system | 0 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0003117 | Abnormal circulating hormone concentration | 1 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0012093 | Abnormality of endocrine pancreas physiology | 1 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000864 | Abnormality of the hypothalamus-pituitary axis | 1 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0008373 | Puberty and gonadal disorders | 1 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000777 | Abnormality of the thymus | 1 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0012029 | Abnormal urine hormone level | 1 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0012680 | Abnormality of the pineal gland | 1 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000834 | Abnormality of the adrenal glands | 1 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000873 | Diabetes insipidus | 1 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000819 | Diabetes mellitus | 1 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0031072 | Abnormal endocrine physiology | 1 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0031071 | Abnormal endocrine morphology | 1 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000820 | Abnormality of the thyroid gland | 1 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000828 | Abnormality of the parathyroid gland | 1 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000847 | Abnormality of renin-angiotensin system | 1 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0100568 | Neoplasm of the endocrine system | 1 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0008373 | Puberty and gonadal disorders | 1 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0000834 | Abnormality of the adrenal glands | 1 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0000777 | Abnormality of the thymus | 1 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0012029 | Abnormal urine hormone level | 1 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0012680 | Abnormality of the pineal gland | 1 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0000873 | Diabetes insipidus | 1 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0000819 | Diabetes mellitus | 1 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0031072 | Abnormal endocrine physiology | 1 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0031071 | Abnormal endocrine morphology | 1 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0000820 | Abnormality of the thyroid gland | 1 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0000828 | Abnormality of the parathyroid gland | 1 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0000847 | Abnormality of renin-angiotensin system | 1 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0100568 | Neoplasm of the endocrine system | 1 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0003117 | Abnormal circulating hormone concentration | 1 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0012093 | Abnormality of endocrine pancreas physiology | 1 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0000864 | Abnormality of the hypothalamus-pituitary axis | 1 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0003117 | Abnormal circulating hormone concentration | 1 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0008373 | Puberty and gonadal disorders | 1 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0012093 | Abnormality of endocrine pancreas physiology | 1 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0000864 | Abnormality of the hypothalamus-pituitary axis | 1 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0012029 | Abnormal urine hormone level | 1 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0000873 | Diabetes insipidus | 1 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0012680 | Abnormality of the pineal gland | 1 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0000834 | Abnormality of the adrenal glands | 1 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0000777 | Abnormality of the thymus | 1 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0031072 | Abnormal endocrine physiology | 1 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0031071 | Abnormal endocrine morphology | 1 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0000819 | Diabetes mellitus | 1 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0000820 | Abnormality of the thyroid gland | 1 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0000828 | Abnormality of the parathyroid gland | 1 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0100568 | Neoplasm of the endocrine system | 1 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0000847 | Abnormality of renin-angiotensin system | 1 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0003117 | Abnormal circulating hormone concentration | 1 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0008373 | Puberty and gonadal disorders | 1 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0012093 | Abnormality of endocrine pancreas physiology | 1 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0000864 | Abnormality of the hypothalamus-pituitary axis | 1 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0000777 | Abnormality of the thymus | 1 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0012029 | Abnormal urine hormone level | 1 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0000873 | Diabetes insipidus | 1 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0012680 | Abnormality of the pineal gland | 1 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0000834 | Abnormality of the adrenal glands | 1 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0031072 | Abnormal endocrine physiology | 1 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0031071 | Abnormal endocrine morphology | 1 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0000819 | Diabetes mellitus | 1 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0000820 | Abnormality of the thyroid gland | 1 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0000828 | Abnormality of the parathyroid gland | 1 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0100568 | Neoplasm of the endocrine system | 1 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0000847 | Abnormality of renin-angiotensin system | 1 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0008373 | Puberty and gonadal disorders | 1 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0000834 | Abnormality of the adrenal glands | 1 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0000777 | Abnormality of the thymus | 1 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0012029 | Abnormal urine hormone level | 1 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0012680 | Abnormality of the pineal gland | 1 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0000873 | Diabetes insipidus | 1 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0000819 | Diabetes mellitus | 1 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0031072 | Abnormal endocrine physiology | 1 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0031071 | Abnormal endocrine morphology | 1 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0000820 | Abnormality of the thyroid gland | 1 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0000828 | Abnormality of the parathyroid gland | 1 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0000847 | Abnormality of renin-angiotensin system | 1 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0100568 | Neoplasm of the endocrine system | 1 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0000864 | Abnormality of the hypothalamus-pituitary axis | 1 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0003117 | Abnormal circulating hormone concentration | 1 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0012093 | Abnormality of endocrine pancreas physiology | 1 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0003117 | Abnormal circulating hormone concentration | 1 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0012093 | Abnormality of endocrine pancreas physiology | 1 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0000864 | Abnormality of the hypothalamus-pituitary axis | 1 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0008373 | Puberty and gonadal disorders | 1 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0000777 | Abnormality of the thymus | 1 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0012029 | Abnormal urine hormone level | 1 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0000873 | Diabetes insipidus | 1 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0012680 | Abnormality of the pineal gland | 1 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0000834 | Abnormality of the adrenal glands | 1 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0031072 | Abnormal endocrine physiology | 1 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0031071 | Abnormal endocrine morphology | 1 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0000819 | Diabetes mellitus | 1 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0000820 | Abnormality of the thyroid gland | 1 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0000828 | Abnormality of the parathyroid gland | 1 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0100568 | Neoplasm of the endocrine system | 1 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0000847 | Abnormality of renin-angiotensin system | 1 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0011733 | Abnormality of adrenal physiology | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0011043 | Abnormality of circulating adrenocorticotropin level | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000863 | Central diabetes insipidus | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000831 | Insulin-resistant diabetes mellitus | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0009800 | Maternal diabetes | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0032481 | Abnormal pituitary glycoprotein hormone alpha subunit level | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0500012 | Abnormality of gonadotropin-releasing hormone level | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0003492 | High urinary gonadotropin level | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0100521 | Neoplasm of the thymus | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0031052 | Elevated vascular endothelial growth factor level | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0012030 | Increased urinary cortisol level | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0031101 | Abnormal circulating antimullerian hormone concentration | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0032367 | Abnormal growth hormone level | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0012681 | Abnormal pineal morphology | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0009806 | Nephrogenic diabetes insipidus | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0040277 | Neoplasm of the pituitary gland | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000840 | Adrenogenital syndrome | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0002929 | Leydig cell insensitivity to gonadotropin | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0001953 | Diabetic ketoacidosis | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0012688 | Abnormality of pineal physiology | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0012099 | Abnormality of circulating catecholamine level | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0010517 | Ectopic thymus tissue | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0031073 | Abnormal response to endocrine stimulation test | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0005978 | Type II diabetes mellitus | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0033644 | Elevated circulating erythropoietin concentration | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0032331 | Increased urinary 11-deoxytetrahydrocorticosterone level | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0010516 | Thymus hyperplasia | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0100733 | Neoplasm of the parathyroid gland | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0031427 | Abnormal circulating osteocalcin level | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0011732 | Abnormality of adrenal morphology | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0040084 | Abnormal circulating renin | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0500166 | Abnormal circulating gastrin concentration | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000135 | Hypogonadism | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0008187 | Absence of secondary sex characteristics | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0031218 | Inappropriate antidiuretic hormone secretion | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0011767 | Abnormality of the parathyroid physiology | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0011772 | Abnormal thyroid morphology | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0100651 | Type I diabetes mellitus | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0032329 | Increased urinary 11-deoxycortisol level | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0003357 | Thymic hormone decreased | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0100631 | Neoplasm of the adrenal gland | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0011766 | Abnormality of the parathyroid morphology | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0031508 | Abnormal thyroid hormone level | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0040085 | Abnormal circulating aldosterone | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0033799 | Abnormal circulating sex hormone concentration | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000841 | Hyperactive renin-angiotensin system | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0100031 | Neoplasm of the thyroid gland | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0100000 | Early onset of sexual maturation | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0040192 | APUdoma | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000823 | Delayed puberty | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0002926 | Abnormality of thyroid physiology | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0012503 | Abnormality of the pituitary gland | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0040214 | Abnormal insulin level | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0004361 | Abnormality of circulating leptin level | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0031083 | Abnormal response to human chorionic gonadotrophin stimulation test | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0012111 | Abnormality of circulating glucocorticoid level | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0004904 | Maturity-onset diabetes of the young | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0032330 | Increased urinary 11-deoxycorticosterone level | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0030684 | Abnormal adiponectin level | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0030687 | Abnormal glucagon level | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0031099 | Abnormal circulating inhibin level | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0003144 | Increased serum serotonin | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0006476 | Abnormality of the pancreatic islet cells | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0012285 | Abnormal hypothalamus physiology | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0030338 | Abnormal circulating gonadotropin concentration | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0031080 | Abnormal response to glucagon stimulation test | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0008197 | Absence of pubertal development | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0100634 | Neuroendocrine neoplasm | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0008226 | Androgen insufficiency | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0008193 | Primary gonadal insufficiency | 2 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0009806 | Nephrogenic diabetes insipidus | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0040277 | Neoplasm of the pituitary gland | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0000840 | Adrenogenital syndrome | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0002929 | Leydig cell insensitivity to gonadotropin | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0001953 | Diabetic ketoacidosis | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0012688 | Abnormality of pineal physiology | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0012099 | Abnormality of circulating catecholamine level | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0010517 | Ectopic thymus tissue | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0031073 | Abnormal response to endocrine stimulation test | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0005978 | Type II diabetes mellitus | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0033644 | Elevated circulating erythropoietin concentration | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0032331 | Increased urinary 11-deoxytetrahydrocorticosterone level | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0010516 | Thymus hyperplasia | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0100733 | Neoplasm of the parathyroid gland | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0031427 | Abnormal circulating osteocalcin level | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0011732 | Abnormality of adrenal morphology | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0040084 | Abnormal circulating renin | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0500166 | Abnormal circulating gastrin concentration | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0000135 | Hypogonadism | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0008187 | Absence of secondary sex characteristics | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0100031 | Neoplasm of the thyroid gland | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0031218 | Inappropriate antidiuretic hormone secretion | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0011767 | Abnormality of the parathyroid physiology | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0011772 | Abnormal thyroid morphology | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0100651 | Type I diabetes mellitus | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0032329 | Increased urinary 11-deoxycortisol level | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0003357 | Thymic hormone decreased | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0100631 | Neoplasm of the adrenal gland | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0011766 | Abnormality of the parathyroid morphology | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0031508 | Abnormal thyroid hormone level | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0040085 | Abnormal circulating aldosterone | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0033799 | Abnormal circulating sex hormone concentration | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0000841 | Hyperactive renin-angiotensin system | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0000823 | Delayed puberty | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0100000 | Early onset of sexual maturation | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0040192 | APUdoma | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0030338 | Abnormal circulating gonadotropin concentration | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0031080 | Abnormal response to glucagon stimulation test | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0002926 | Abnormality of thyroid physiology | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0012503 | Abnormality of the pituitary gland | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0040214 | Abnormal insulin level | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0004361 | Abnormality of circulating leptin level | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0031083 | Abnormal response to human chorionic gonadotrophin stimulation test | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0012111 | Abnormality of circulating glucocorticoid level | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0004904 | Maturity-onset diabetes of the young | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0032330 | Increased urinary 11-deoxycorticosterone level | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0030684 | Abnormal adiponectin level | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0030687 | Abnormal glucagon level | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0031099 | Abnormal circulating inhibin level | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0003144 | Increased serum serotonin | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0006476 | Abnormality of the pancreatic islet cells | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0012285 | Abnormal hypothalamus physiology | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0008193 | Primary gonadal insufficiency | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0008197 | Absence of pubertal development | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0100634 | Neuroendocrine neoplasm | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0008226 | Androgen insufficiency | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0011733 | Abnormality of adrenal physiology | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0011043 | Abnormality of circulating adrenocorticotropin level | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0000863 | Central diabetes insipidus | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0000831 | Insulin-resistant diabetes mellitus | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0009800 | Maternal diabetes | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0032481 | Abnormal pituitary glycoprotein hormone alpha subunit level | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0500012 | Abnormality of gonadotropin-releasing hormone level | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0003492 | High urinary gonadotropin level | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0100521 | Neoplasm of the thymus | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0031052 | Elevated vascular endothelial growth factor level | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0012030 | Increased urinary cortisol level | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0031101 | Abnormal circulating antimullerian hormone concentration | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0032367 | Abnormal growth hormone level | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0012681 | Abnormal pineal morphology | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0008193 | Primary gonadal insufficiency | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0009800 | Maternal diabetes | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0032481 | Abnormal pituitary glycoprotein hormone alpha subunit level | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0500012 | Abnormality of gonadotropin-releasing hormone level | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0003492 | High urinary gonadotropin level | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0100521 | Neoplasm of the thymus | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0009806 | Nephrogenic diabetes insipidus | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0031052 | Elevated vascular endothelial growth factor level | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0012030 | Increased urinary cortisol level | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0031101 | Abnormal circulating antimullerian hormone concentration | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0032367 | Abnormal growth hormone level | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0040277 | Neoplasm of the pituitary gland | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0012681 | Abnormal pineal morphology | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0000840 | Adrenogenital syndrome | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0011733 | Abnormality of adrenal physiology | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0011043 | Abnormality of circulating adrenocorticotropin level | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0000863 | Central diabetes insipidus | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0000831 | Insulin-resistant diabetes mellitus | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0002929 | Leydig cell insensitivity to gonadotropin | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0012688 | Abnormality of pineal physiology | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0012099 | Abnormality of circulating catecholamine level | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0010517 | Ectopic thymus tissue | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0031073 | Abnormal response to endocrine stimulation test | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0005978 | Type II diabetes mellitus | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0033644 | Elevated circulating erythropoietin concentration | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0032331 | Increased urinary 11-deoxytetrahydrocorticosterone level | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0010516 | Thymus hyperplasia | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0100733 | Neoplasm of the parathyroid gland | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0031427 | Abnormal circulating osteocalcin level | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0011732 | Abnormality of adrenal morphology | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0040084 | Abnormal circulating renin | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0008187 | Absence of secondary sex characteristics | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0500166 | Abnormal circulating gastrin concentration | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0001953 | Diabetic ketoacidosis | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0000135 | Hypogonadism | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0031218 | Inappropriate antidiuretic hormone secretion | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0011767 | Abnormality of the parathyroid physiology | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0011772 | Abnormal thyroid morphology | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0100651 | Type I diabetes mellitus | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0032329 | Increased urinary 11-deoxycortisol level | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0003357 | Thymic hormone decreased | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0100631 | Neoplasm of the adrenal gland | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0011766 | Abnormality of the parathyroid morphology | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0040192 | APUdoma | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0031508 | Abnormal thyroid hormone level | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0040085 | Abnormal circulating aldosterone | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0033799 | Abnormal circulating sex hormone concentration | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0000841 | Hyperactive renin-angiotensin system | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0000823 | Delayed puberty | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0100031 | Neoplasm of the thyroid gland | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0100000 | Early onset of sexual maturation | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0040214 | Abnormal insulin level | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0004361 | Abnormality of circulating leptin level | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0031083 | Abnormal response to human chorionic gonadotrophin stimulation test | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0012111 | Abnormality of circulating glucocorticoid level | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0004904 | Maturity-onset diabetes of the young | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0032330 | Increased urinary 11-deoxycorticosterone level | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0030684 | Abnormal adiponectin level | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0030687 | Abnormal glucagon level | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0031099 | Abnormal circulating inhibin level | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0003144 | Increased serum serotonin | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0008197 | Absence of pubertal development | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0006476 | Abnormality of the pancreatic islet cells | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0100634 | Neuroendocrine neoplasm | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0008226 | Androgen insufficiency | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0012285 | Abnormal hypothalamus physiology | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0030338 | Abnormal circulating gonadotropin concentration | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0031080 | Abnormal response to glucagon stimulation test | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0002926 | Abnormality of thyroid physiology | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0012503 | Abnormality of the pituitary gland | 2 | KCTD1 CL E G H | 284252 | 181270 | Scalp ear nipple syndrome | 181270 | C1867020 | OMIM | 1 | | 71 | 18249 | 613420 |
HP:0000818 | HP:0008226 | Androgen insufficiency | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0008193 | Primary gonadal insufficiency | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0000831 | Insulin-resistant diabetes mellitus | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0009800 | Maternal diabetes | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0032481 | Abnormal pituitary glycoprotein hormone alpha subunit level | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0500012 | Abnormality of gonadotropin-releasing hormone level | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0003492 | High urinary gonadotropin level | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0100521 | Neoplasm of the thymus | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0009806 | Nephrogenic diabetes insipidus | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0031052 | Elevated vascular endothelial growth factor level | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0012030 | Increased urinary cortisol level | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0031101 | Abnormal circulating antimullerian hormone concentration | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0032367 | Abnormal growth hormone level | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0040277 | Neoplasm of the pituitary gland | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0012681 | Abnormal pineal morphology | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0011733 | Abnormality of adrenal physiology | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0011043 | Abnormality of circulating adrenocorticotropin level | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0000863 | Central diabetes insipidus | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0000840 | Adrenogenital syndrome | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0002929 | Leydig cell insensitivity to gonadotropin | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0012688 | Abnormality of pineal physiology | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0012099 | Abnormality of circulating catecholamine level | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0010517 | Ectopic thymus tissue | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0031073 | Abnormal response to endocrine stimulation test | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0005978 | Type II diabetes mellitus | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0033644 | Elevated circulating erythropoietin concentration | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0032331 | Increased urinary 11-deoxytetrahydrocorticosterone level | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0010516 | Thymus hyperplasia | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0100733 | Neoplasm of the parathyroid gland | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0031427 | Abnormal circulating osteocalcin level | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0011732 | Abnormality of adrenal morphology | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0040084 | Abnormal circulating renin | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0500166 | Abnormal circulating gastrin concentration | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0001953 | Diabetic ketoacidosis | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0000135 | Hypogonadism | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0008187 | Absence of secondary sex characteristics | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0031218 | Inappropriate antidiuretic hormone secretion | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0011767 | Abnormality of the parathyroid physiology | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0011772 | Abnormal thyroid morphology | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0100651 | Type I diabetes mellitus | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0032329 | Increased urinary 11-deoxycortisol level | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0003357 | Thymic hormone decreased | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0100631 | Neoplasm of the adrenal gland | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0011766 | Abnormality of the parathyroid morphology | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0040192 | APUdoma | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0031508 | Abnormal thyroid hormone level | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0040085 | Abnormal circulating aldosterone | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0033799 | Abnormal circulating sex hormone concentration | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0000841 | Hyperactive renin-angiotensin system | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0100031 | Neoplasm of the thyroid gland | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0100000 | Early onset of sexual maturation | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0000823 | Delayed puberty | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0012503 | Abnormality of the pituitary gland | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0040214 | Abnormal insulin level | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0004361 | Abnormality of circulating leptin level | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0031083 | Abnormal response to human chorionic gonadotrophin stimulation test | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0012111 | Abnormality of circulating glucocorticoid level | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0004904 | Maturity-onset diabetes of the young | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0032330 | Increased urinary 11-deoxycorticosterone level | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0030684 | Abnormal adiponectin level | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0030687 | Abnormal glucagon level | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0031099 | Abnormal circulating inhibin level | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0003144 | Increased serum serotonin | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0008197 | Absence of pubertal development | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0006476 | Abnormality of the pancreatic islet cells | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0100634 | Neuroendocrine neoplasm | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0012285 | Abnormal hypothalamus physiology | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0030338 | Abnormal circulating gonadotropin concentration | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0031080 | Abnormal response to glucagon stimulation test | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0002926 | Abnormality of thyroid physiology | 2 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000818 | HP:0002929 | Leydig cell insensitivity to gonadotropin | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0009806 | Nephrogenic diabetes insipidus | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0040277 | Neoplasm of the pituitary gland | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0000840 | Adrenogenital syndrome | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0001953 | Diabetic ketoacidosis | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0012688 | Abnormality of pineal physiology | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0012099 | Abnormality of circulating catecholamine level | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0010517 | Ectopic thymus tissue | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0031073 | Abnormal response to endocrine stimulation test | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0005978 | Type II diabetes mellitus | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0033644 | Elevated circulating erythropoietin concentration | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0032331 | Increased urinary 11-deoxytetrahydrocorticosterone level | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0010516 | Thymus hyperplasia | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0100733 | Neoplasm of the parathyroid gland | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0031427 | Abnormal circulating osteocalcin level | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0011732 | Abnormality of adrenal morphology | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0040084 | Abnormal circulating renin | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0500166 | Abnormal circulating gastrin concentration | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0000135 | Hypogonadism | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0008187 | Absence of secondary sex characteristics | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0033799 | Abnormal circulating sex hormone concentration | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0000841 | Hyperactive renin-angiotensin system | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0100031 | Neoplasm of the thyroid gland | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0031218 | Inappropriate antidiuretic hormone secretion | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0011767 | Abnormality of the parathyroid physiology | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0011772 | Abnormal thyroid morphology | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0100651 | Type I diabetes mellitus | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0032329 | Increased urinary 11-deoxycortisol level | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0003357 | Thymic hormone decreased | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0100631 | Neoplasm of the adrenal gland | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0011766 | Abnormality of the parathyroid morphology | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0031508 | Abnormal thyroid hormone level | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0040085 | Abnormal circulating aldosterone | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0000823 | Delayed puberty | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0100000 | Early onset of sexual maturation | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0040192 | APUdoma | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0012285 | Abnormal hypothalamus physiology | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0030338 | Abnormal circulating gonadotropin concentration | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0031080 | Abnormal response to glucagon stimulation test | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0002926 | Abnormality of thyroid physiology | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0012503 | Abnormality of the pituitary gland | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0040214 | Abnormal insulin level | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0004361 | Abnormality of circulating leptin level | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0031083 | Abnormal response to human chorionic gonadotrophin stimulation test | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0012111 | Abnormality of circulating glucocorticoid level | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0004904 | Maturity-onset diabetes of the young | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0032330 | Increased urinary 11-deoxycorticosterone level | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0030684 | Abnormal adiponectin level | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0030687 | Abnormal glucagon level | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0031099 | Abnormal circulating inhibin level | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0003144 | Increased serum serotonin | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0006476 | Abnormality of the pancreatic islet cells | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0008226 | Androgen insufficiency | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0008193 | Primary gonadal insufficiency | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0008197 | Absence of pubertal development | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0100634 | Neuroendocrine neoplasm | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0011733 | Abnormality of adrenal physiology | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0011043 | Abnormality of circulating adrenocorticotropin level | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0000863 | Central diabetes insipidus | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0000831 | Insulin-resistant diabetes mellitus | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0009800 | Maternal diabetes | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0032481 | Abnormal pituitary glycoprotein hormone alpha subunit level | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0500012 | Abnormality of gonadotropin-releasing hormone level | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0003492 | High urinary gonadotropin level | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0100521 | Neoplasm of the thymus | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0031052 | Elevated vascular endothelial growth factor level | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0012030 | Increased urinary cortisol level | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0031101 | Abnormal circulating antimullerian hormone concentration | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0032367 | Abnormal growth hormone level | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0012681 | Abnormal pineal morphology | 2 | SRD5A2 CL E G H | 6716 | 753 | | | | ORPHA | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0008197 | Absence of pubertal development | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0008226 | Androgen insufficiency | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0008193 | Primary gonadal insufficiency | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0011043 | Abnormality of circulating adrenocorticotropin level | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0000863 | Central diabetes insipidus | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0000831 | Insulin-resistant diabetes mellitus | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0009800 | Maternal diabetes | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0032481 | Abnormal pituitary glycoprotein hormone alpha subunit level | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0500012 | Abnormality of gonadotropin-releasing hormone level | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0003492 | High urinary gonadotropin level | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0100521 | Neoplasm of the thymus | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0009806 | Nephrogenic diabetes insipidus | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0031052 | Elevated vascular endothelial growth factor level | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0012030 | Increased urinary cortisol level | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0031101 | Abnormal circulating antimullerian hormone concentration | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0032367 | Abnormal growth hormone level | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0040277 | Neoplasm of the pituitary gland | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0012681 | Abnormal pineal morphology | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0011733 | Abnormality of adrenal physiology | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0000840 | Adrenogenital syndrome | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0002929 | Leydig cell insensitivity to gonadotropin | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0001953 | Diabetic ketoacidosis | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0012688 | Abnormality of pineal physiology | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0012099 | Abnormality of circulating catecholamine level | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0010517 | Ectopic thymus tissue | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0031073 | Abnormal response to endocrine stimulation test | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0005978 | Type II diabetes mellitus | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0033644 | Elevated circulating erythropoietin concentration | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0032331 | Increased urinary 11-deoxytetrahydrocorticosterone level | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0010516 | Thymus hyperplasia | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0100733 | Neoplasm of the parathyroid gland | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0031427 | Abnormal circulating osteocalcin level | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0011732 | Abnormality of adrenal morphology | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0040084 | Abnormal circulating renin | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0500166 | Abnormal circulating gastrin concentration | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0000135 | Hypogonadism | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0008187 | Absence of secondary sex characteristics | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0031218 | Inappropriate antidiuretic hormone secretion | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0011767 | Abnormality of the parathyroid physiology | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0011772 | Abnormal thyroid morphology | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0100651 | Type I diabetes mellitus | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0032329 | Increased urinary 11-deoxycortisol level | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0003357 | Thymic hormone decreased | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0100631 | Neoplasm of the adrenal gland | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0011766 | Abnormality of the parathyroid morphology | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0040192 | APUdoma | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0031508 | Abnormal thyroid hormone level | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0040085 | Abnormal circulating aldosterone | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0033799 | Abnormal circulating sex hormone concentration | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0000841 | Hyperactive renin-angiotensin system | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0100031 | Neoplasm of the thyroid gland | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0100000 | Early onset of sexual maturation | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0000823 | Delayed puberty | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0002926 | Abnormality of thyroid physiology | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0012503 | Abnormality of the pituitary gland | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0040214 | Abnormal insulin level | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0004361 | Abnormality of circulating leptin level | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0031083 | Abnormal response to human chorionic gonadotrophin stimulation test | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0012111 | Abnormality of circulating glucocorticoid level | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0004904 | Maturity-onset diabetes of the young | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0032330 | Increased urinary 11-deoxycorticosterone level | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0030684 | Abnormal adiponectin level | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0030687 | Abnormal glucagon level | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0031099 | Abnormal circulating inhibin level | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0003144 | Increased serum serotonin | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0006476 | Abnormality of the pancreatic islet cells | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0100634 | Neuroendocrine neoplasm | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0012285 | Abnormal hypothalamus physiology | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0030338 | Abnormal circulating gonadotropin concentration | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0031080 | Abnormal response to glucagon stimulation test | 2 | SRD5A2 CL E G H | 6716 | 264600 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 264600 | C0268297 | OMIM | 1 | | 211 | 11285 | 607306 |
HP:0000818 | HP:0012687 | Agenesis of pineal gland | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0012287 | Hypothalamic luteinizing hormone-releasing hormone deficiency | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000854 | Thyroid adenoma | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0031082 | Impaired growth-hormone response to glucagon stimulation test | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0012689 | Abnormal pineal melatonin secretion | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0003334 | Elevated circulating catecholamine level | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0031505 | Abnormal circulating T4 level | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0008186 | Adrenocortical cytomegaly | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0008247 | Euthyroid hyperthyroxinemia | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0031074 | Abnormal response to ACTH stimulation test | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0040278 | Prolactinoma | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0030353 | Decreased serum insulin-like growth factor 1 | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0100641 | Neoplasm of the adrenal cortex | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0100733 | Neoplasm of the parathyroid gland | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0031429 | Decreased circulating osteocalcin level | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0032209 | Abnormal circulating free T3 level | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0010512 | Adrenal calcification | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0003351 | Decreased circulating renin level | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000821 | Hypothyroidism | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0500167 | Hypergastrinemia | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0032308 | Increased circulating procalcitonin concentration | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0012569 | Delayed menarche | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000134 | Female hypogonadism | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0011751 | Abnormality of the posterior pituitary | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0100031 | Neoplasm of the thyroid gland | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000845 | Elevated circulating growth hormone concentration | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0031081 | Impaired cortisol response to glucagon stimulation test | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0031187 | Abnormal circulating pregnenolone concentration | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0031793 | Increased serum leptin | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000843 | Hyperparathyroidism | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0033079 | Aplasia/Hypoplasia of the thyroid gland | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000837 | Increased circulating gonadotropin level | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0011750 | Neoplasm of the anterior pituitary | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000829 | Hypoparathyroidism | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0008188 | Thyroid dysgenesis | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0100631 | Neoplasm of the adrenal gland | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000853 | Goiter | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0030686 | Increased adiponectin level | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0030688 | Increased glucagon level | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0031279 | Abnormal response to gonadotropin-releasing hormone stimulation test | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0031508 | Abnormal thyroid hormone level | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0008249 | Thyroid hyperplasia | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0008261 | Pancreatic islet cell adenoma | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0008242 | Pseudohypoaldosteronism | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0006780 | Parathyroid carcinoma | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0003165 | Elevated circulating parathyroid hormone level | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0030347 | Abnormal circulating androgen level | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0008221 | Adrenal hyperplasia | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0100646 | Thyroiditis | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0025453 | Delayed adrenarche | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0002668 | Paraganglioma | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000826 | Precocious puberty | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0030447 | Merkel cell skin cancer | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000026 | Male hypogonadism | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0030346 | Abnormal circulating follicle-stimulating hormone concentration | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0031084 | Excessive insulin response to glucagon test | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0008229 | Thyroid lymphangiectasia | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0033076 | Abnormal circulating free T4 level | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000835 | Adrenal hypoplasia | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0012682 | Pineal gland calcification | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0031221 | Abnormal radioactive iodine uptake test result | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0003154 | Increased circulating ACTH level | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0100642 | Neoplasm of the adrenal medulla | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0012504 | Abnormal size of pituitary gland | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0011789 | Impaired sensitivity to thyroid stimulating hormone | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0030345 | Abnormal circulating luteinizing hormone concentration | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0040215 | Abnormal circulating insulin level | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0003292 | Decreased serum leptin | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000778 | Hypoplasia of the thymus | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0012112 | Abnormal circulating corticosterone level | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0008263 | Thyroid defect in oxidation and organification of iodide | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0030339 | Decreased circulating gonadotropin concentration | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0031208 | Increased pituitary glycoprotein hormone alpha subunit level | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0500013 | Lack of gonadotropin-releasing hormone pulsatility | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0010518 | Thyroglossal cyst | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0030685 | Decreased adiponectin level | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0030689 | Decreased glucagon level | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0011747 | Abnormality of the anterior pituitary | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0031100 | Decreased inhibin B level | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000852 | Pseudohypoparathyroidism | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0006279 | Beta-cell dysfunction | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0012558 | Abnormal T3/T4 ratio | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0031102 | Increased antimullerian hormone level | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0031075 | Abnormal response to insulin tolerance test | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0002890 | Thyroid carcinoma | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0003528 | Elevated calcitonin | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0025388 | Thyroid nodule | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0008237 | Hypothalamic hypothyroidism | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0002666 | Pheochromocytoma | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0012412 | Premature adrenarche | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0008647 | Pubertal developmental failure in females | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000044 | Hypogonadotropic hypogonadism | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0100570 | Carcinoid tumor | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0011768 | Parathyroid dysgenesis | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000846 | Adrenal insufficiency | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0012683 | Pineal cyst | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0004510 | Pancreatic islet-cell hyperplasia | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0002920 | Decreased circulating ACTH level | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0002930 | Impaired sensitivity to thyroid hormone | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0008208 | Parathyroid hyperplasia | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0005359 | Aplasia of the thymus | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000849 | Adrenocortical abnormality | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0033080 | Abnormal TSH response to thyrotrophin-releasing hormone stimulation test | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0006274 | Reduced pancreatic beta cells | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0031212 | Abnormal circulating progesterone level | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0025482 | Positive perchlorate discharge test | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0032482 | Decreased pituitary glycoprotein hormone alpha subunit level | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0003164 | Hypothalamic gonadotropin-releasing hormone deficiency | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0100522 | Thymoma | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0011742 | Ectopic adrenal gland | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0002717 | Adrenal overactivity | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000836 | Hyperthyroidism | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0031077 | Abnormal response to corticotropin releasing hormone stimulation test | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0030269 | Increased serum insulin-like growth factor 1 | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0025132 | Abnormal circulating estrogen level | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0031103 | Decreased antimullerian hormone level | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000824 | Decreased response to growth hormone stimulation test | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0011731 | Abnormality of circulating cortisol level | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0002897 | Parathyroid adenoma | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0031817 | Decreased circulating parathyroid hormone level | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0031428 | Increased circulating osteocalcin level | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0008216 | Adrenal gland dysgenesis | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000848 | Increased circulating renin level | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0012684 | Abnormal pineal volume | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0030405 | Pancreatic endocrine tumor | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0025515 | Delayed thelarche | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0000815 | Hypergonadotropic hypogonadism | 3 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000818 | HP:0012569 | Delayed menarche | 3 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0000134 | Female hypogonadism | 3 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0000821 | Hypothyroidism | 3 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0030347 | Abnormal circulating androgen level | 3 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0008221 | Adrenal hyperplasia | 3 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0000818 | HP:0100646 | Thyroiditis | 3 | DMPK CL E G |